title: Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
abstract: The Lepore hemoglobins (Hbs) are a group of structural defects resulting from different recombination events between the delta- and beta-globin genes. They may come with different beta-thalassemia (beta-thal) minor-like phenotypes in the carrier and with variably severe phenotypes in the rare homozygote, and in the common compound heterozygote with beta-thal. The most seriously affected patients are those of Yugoslavian origin presenting with severe transfusion-dependent hemolytic anemia, dyserythropoiesis, hepatosplenomegaly and skeletal malformations. Because of genetic risk, couples where both partners are carriers of these combinations may require prognosis and prenatal diagnosis. In these cases, recognition of the defect must be done with particular care. We report a case of Hb Lepore induced by a yet unknown crossover event found in a 24-year-old Turkish male and compare the novel mutation with those previously reported.
authors.affiliation: Department of Human and Clinical Genetics and The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Pierre W
authors.initials: PW
authors.lastname: Wijermans
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: Peter
authors.initials: P
authors.lastname: Van Delft
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Kerkhoffs
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C029445:hemoglobin Leiden; D006443:Hemoglobin A2; C037659:hemoglobin Lepore